Fibrosis of extraocular muscles
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 | C4015552 | COL25A1 | Causal Pathogenic evidence from ClinVar | 25500261 | ClinVar |
| Fibrosis Of Extraocular Muscles, Congenital, 1 | C1851102 | KIF21A | Causal Pathogenic evidence from ClinVar | 14595441, 16157808, 17511870, 18332320, 24715754 | ClinVar |
| FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 | C1865915 | PHOX2A | Causal Pathogenic evidence from ClinVar | 11600883, 22311481 | ClinVar |
| FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT | C2748801 | TUBB3 | Causal Pathogenic evidence from ClinVar | 20074521, 20829227, 27428177 | ClinVar |